N132K (p.Asn132Lys) variant of ATXN3 (Ataxin-3)
N132K (p.Asn132Lys) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
N132K (p.Asn132Lys) variant details
- p.Asn132Lys
- TOPMed rs2063136858
- gnomAD rs2063136858
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)